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Article

Vanishing white matter disease caused by EIF2B2 mutation with the presentation of an adrenoleukodystrophy phenotype.

Gene - 1 Apr 2012

Alsalem Ahmed, Shaheen Ranad, Alkuraya Fowzan S

Abstract excerpt

Vanishing white matter disease (VWMD) is an autosomal recessive disorder characterized by progressive degeneration of the white matter. While variable clinical presentation is well documented, there are no reports of adrenal insufficiency. We describe a young Saudi girl with VWMD whose atypical p...

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Share to Adrenal Insufficiency
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Share to Eukaryotic Initiation Factor-2B

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22285377
DOI: 10.1016/j.gene.2011.12.047

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22285377-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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